A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181904



Internal ID20748944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93184201..93186000hg38UCSC Ensembl
chr14:93650546..93652345hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6504143
Supporting Variants
Samples
Known GenesMOAP1, TMEM251
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181904
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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